Results 91 to 100 of about 2,204 (208)

Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations

Orphanet Journal of Rare Diseases, 2023
Background The web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval of pegvaliase pharmacotherapy, offers guidance for nutrition management of individuals with phenylketonuria (PKU) treated with dietary therapy and/or ...
Amy Cunningham, Fran Rohr, Patricia Splett, Shideh Mofidi, Heather Bausell, Adrya Stembridge, Aileen Kenneson, Rani H. Singh   +7 more
doaj   +1 more source

Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications

Clinical Genetics, Volume 105, Issue 6, Page 639-654, June 2024.
The current study highlights the phenotypic and genotypic insights from 142 Indian families with epilepsy with or without comorbidities. We further study its implications on genetic counseling and therapy. Abstract The application of genomic technologies has led to unraveling of the complex genetic landscape of disorders of epilepsy, gaining insights ...
Purvi Majethia, Namanpreet Kaur, Selinda Mascarenhas, Lakshmi Priya Rao, Shruti Pande, Dhanya Lakshmi Narayanan, Vivekananda Bhat, Shalini S. Nayak, Karthik Vijay Nair, Adarsh Pooradan Prasannakumar, Ankur Chaurasia, Bhagesh Hunakunti, Nalesh Jadhav, Sheeba Farooqui, Mayuri Yeole, Vishaka Kothiwale, Rohit Naik, Veena Bhat, Shrikiran Aroor, Leslie Lewis, Jayashree Purkayastha, Y. Ramesh Bhat, B. K. Praveen, B. L. Yatheesha, Siddaramappa J. Patil, Sheela Nampoothiri, Nutan Kamath, Shahyan Siddiqui, Stephanie Bielas, Katta Mohan Girisha, Suvasini Sharma, Anju Shukla   +31 more
wiley   +1 more source

Sapropterin reduces coronary artery malformation in offspring of pregestational diabetes mice

Nitric Oxide, 2020
Endothelial nitric oxide synthase (eNOS) and oxidative stress are critical to embryonic coronary artery development. Maternal diabetes increases oxidative stress and reduces eNOS activity in the fetal heart. Sapropterin (Kuvan®) is an orally active, synthetic form of tetrahydrobiopterin (BH4) and a co-factor for eNOS with antioxidant properties.
Engineer, Anish, Lim, Yong Jin, Lu, Xiangru, Kim, Mella Y, Norozi, Kambiz, Feng, Qingping   +5 more
openaire   +6 more sources

Relative Oral Bioavailability and Food Effects of Two Sepiapterin Formulations in Healthy Participants

Clinical Pharmacology in Drug Development, Volume 13, Issue 5, Page 506-516, May 2024.
Abstract Sepiapterin is an orally administered drug in development for the treatment of phenylketonuria, an inborn error of metabolism characterized by the deficiency of the phenylalanine‐metabolizing enzyme phenylalanine hydroxylase. This study characterized the pharmacokinetics, safety, and tolerability of 2 clinical sepiapterin formulations (Phase 1/
Lan Gao, Diksha Kaushik, Yi Xia, Kimberly Ingalls, Sarah Milner, Neil Smith, Ronald Kong   +6 more
wiley   +1 more source

A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria

Orphanet Journal of Rare Diseases, 2021
Background In classical phenylketonuria (PKU) phenylalanine (Phe) accumulates due to functional impairment of the enzyme phenylalanine hydroxylase caused by pathogenic variants in the PAH gene. PKU treatment prevents severe cognitive impairment.
Marion Herle, Michaela Brunner-Krainz, Daniela Karall, Bernadette Goeschl, Dorothea Möslinger, Joachim Zobel, Barbara Plecko, Sabine Scholl-Bürgi, Johannes Spenger, Saskia B. Wortmann, Martina Huemer   +10 more
doaj   +1 more source

Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock‐in mouse model

Journal of Inherited Metabolic Disease, Volume 47, Issue 3, Page 494-508, May 2024.
Abstract Proteostatic regulation of tyrosine hydroxylase (TH), the rate‐limiting enzyme in dopamine biosynthesis, is crucial for maintaining proper brain neurotransmitter homeostasis. Variants of the TH gene are associated with tyrosine hydroxylase deficiency (THD), a rare disorder with a wide phenotypic spectrum and variable response to treatment ...
Kunwar Jung‐KC, Alba Tristán‐Noguero, Altanchimeg Altankhuyag, David Piñol Belenguer, Karina S. Prestegård, Irene Fernandez‐Carasa, Arianna Colini Baldeschi, Maria Sigatulina Bondarenko, Angeles García‐Cazorla, Antonella Consiglio, Aurora Martinez   +10 more
wiley   +1 more source

One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4)

Orphanet Journal of Rare Diseases, 2018
Background People with Phenylketonuria (PKU) who respond to tetrahydrobiopterin (BH4) often decrease dependence on medical food (MF) following increased phenylalanine (phe) tolerance.
Kristen D Brantley, Teresa D Douglas, Rani H Singh   +2 more
doaj   +1 more source

The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response [PDF]

, 2017
The discovery of a pharmacological treatment for phenylketonuria (PKU) raised new questions about function and dysfunction of phenylalanine hydroxylase (PAH), the enzyme deficient in this disease.
Blau, Nenad, Danecka, Marta K., Gersting, Søren W., Kemter, Kristina F., Messing, Dunja D., Muntau, Ania C., Pinkas, Daniel, Staudigl, Michael, Woidy, Mathias   +8 more
core  

Mouse models for inherited monoamine neurotransmitter disorders

Journal of Inherited Metabolic Disease, Volume 47, Issue 3, Page 533-550, May 2024.
Abstract Several mouse models have been developed to study human defects of primary and secondary inherited monoamine neurotransmitter disorders (iMND). As the field continues to expand, current defects in corresponding mouse models include enzymes and a molecular co‐chaperone involved in monoamine synthesis and metabolism (PAH, TH, PITX3, AADC, DBH ...
Beat Thöny, Joanne Ng, Manju A. Kurian, Philippa Mills, Aurora Martinez   +4 more
wiley   +1 more source

A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria

Molecular Genetics and Metabolism, 2015
Symptoms of attention deficit-hyperactivity disorder (ADHD), particularly inattention, and impairments in executive functioning have been reported in early and continuously treated children, adolescents, and adults with phenylketonuria (PKU). In addition, higher blood phenylalanine (Phe) levels have been correlated with the presence of ADHD symptoms ...
Amarilis Sanchez-Valle, Markus Merilainen, Barbara K. Burton, Annette Feigenbaum, K. Siriwardena, S. Yu, Susan E. Waisbren, Mitzie Grant, Robert L. Hendren, William Lang, Charlie Zhang, Stephen M. Stahl, J. Gillis, Rani H. Singh, Suyash Prasad, John A. Phillips   +15 more
openaire   +2 more sources